Your browser version is outdated. We recommend that you update your browser to the latest version.

This page is dedicated to research that has been undertaken in to PROS:

Here is a website that gives you a detailed explanation of PROS:

https://rarediseases.info.nih.gov/diseases/12182/pik3ca-related-overgrowth-spectrum

 

The following research papers are collated in date order, for the latest research please scroll down the page:

2012

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome (FULL ARTICLE)

https://www.sciencedirect.com/science/article/pii/S0002929712002625 

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA (ABSTRACT ONLY)

https://www.nature.com/articles/ng.2332

 

 2014

PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation (FULL ARTICLE)

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480633/

 

Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum (FULL ARTICLE)

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.36552

 

2015

Heterozygous expression of the oncogenic Pik3caH1047R mutation during murine development results in fatal embryonic and extraembryonic defects (FULL ARTICLE)

https://www.sciencedirect.com/science/article/pii/S0012160615002444

 

Mouse models of human PIK3CA-related brain overgrowth have 1 acutely treatable epilepsy (FULL ARTICLE)

https://cdn.elifesciences.org/articles/12703/elife-12703-v1.pdf

 

2016

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans (ABSTRACT ONLY)

http://stm.sciencemag.org/content/8/332/332ra43.abstract

 

Cancer drug could treat blood vessel deformities (FULL ARTICLE)

https://www.sciencedaily.com/releases/2016/03/160330152036.htm

 

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation (FULL ARTICLE)

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.37758

 

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution (FULL ARTICLE)

 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5019182/

 

2017

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing (FULL ARTICLE)

https://www.nature.com/articles/gim2016220

 

Mosaic Disorders and the Taxonomy of Human Disease (FULL ARTICLE)

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992089/

 

Gene Editing With CRISPR-Cas9: The Next Step In Human Evolution Will Be Worth $25 Billion By 2030 (FULL ARTICLE)

https://www.forbes.com/sites/reenitadas/2017/12/14/gene-editing-with-crispr-cas9-the-next-step-in-human-evolution-to-be-worth-25-billion-by-2030/#42703065449f

 

 2018

 

Gene edited human stem cells provide insights into early human development and complex growth disorders

FULL ARTICLE HERE

 

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) (FULL ARTICLE)

https://link.springer.com/article/10.1007%2Fs10048-018-0540-1

 

Lessons for cancer drug treatment from tackling a non-cancerous overgrowth syndrome (FULL ARTICLE)

https://www.nature.com/articles/d41586-018-05365-w

 

PI3K/mTOR inhibition promotes the regression of experimental vascular malformations driven by PIK3CA-activating mutations (FULL ARTICLE)

https://www.nature.com/articles/s41419-017-0064-x.epdf?shared_access_token=Gn8b691O9RMpuItD1jaEP9RgN0jAjWel9jnR3ZoTv0P1nn2bNSjQxgal3VEQrAoAJRWreClIDdNrCcf88YL0238wPlzoeAhGYLjccMDEJ5L-Q0YnEMDiVuCW7o2XuWNv3snJ7V9xkw-QOfmuRi3UYkTJJviov89FEEIxgExkoUU%3D

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum (FULL ARTICLE)

https://www.nature.com/articles/s41436-018-0297-9

 

Cancer-AssociatedPIK3CAMutationsinOvergrowthDisorders (FULL ARTICLE)

https://www.cell.com/trends/molecular-medicine/pdf/S1471-4914(18)30163-1.pdf

 

Severe PI3Kinase Overgrowth Syndrome Treated with the AKT Inhibitor Miransertib

FULL ARTICLE HERE

 

Update on UK PIK3CA Overgrowth Research

FULL ARTICLE HERE

 

2019

Open-Label, Phase 1/2 Study of Miransertib (ARQ 092), an Oral pan-AKT Inhibitor, in Patients with PIK3CA-Related Overgrowth Spectrum (PROS): Preliminary Result. (FULL ARTICLE)

https://www.arqule.com/wp-content/uploads/ARQ-092-103_ASHG.pd

 

Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome (ABSTRACT ONLY)

https://www.cell.com/ajhg/fulltext/S0002-9297(19)30015-1

 

Oncogenic PIK3CA promotes cellular stemness in an allele dose-dependent manner (FULL ARTICLE)

https://www.pnas.org/content/early/2019/04/03/1821093116